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Notes: Abstract A 14-year-old girl with untreated simple virilizing congenital adrenal hyperplasia presented with absent breast development. She had not had menarche. During treatment with hydrocortisone, breasts progressed from Tanner stage one to three within 6 months and menarche occured after 10 months. However, a 1.5 cm pituitary adenoma, later described as unspecific pituitary enlargement, remained unchanged. Conclusion In a female with untreated congenital adrenal hyperplasia and an adult bone age, signs of puberty appeared very rapidly once appropriate treatment had begun. This was supposedly due to the declining androgen secretion from the adrenals and the release of their restraining action on the hypothalamic-pituitary ovarian axis.

Notes: Abstract Abstract A 14-year-old girl with untreated simple virilizing congenital adrenal hyperplasia presented with absent breast development. She had not had menarche. During treatment with hydrocortisone, breasts progressed from Tanner stage one to three within 6 months and menarche occured after 10 months. However, a 1.5 cm pituitary adenoma, later described as unspecific pituitary enlargement, remained unchanged. Conclusion In a female with untreated congenital adrenal hyperplasia and an adult bone age, signs of puberty appeared very rapidly once appropriate treatment had begun. This was supposedly due to the declining androgen secretion from the adrenals and the release of their restraining action on the hypothalamic-pituitary ovarian axis.

Notes: Abstract Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operations and chronic medication on the quality of life in adult females with congenital adrenal hyperplasia. We performed a quality-of-life evaluation in adult female patients with congenital adrenal hyperplasia due to a 21-hydroxylation defect. The patients were asked to fill out questionnaires covering the four domains of health-related quality of life, namely physical state, psychological well-being, social relationships and functional capacity as well as questionnaires covering the areas of psychosexual identification and psychosocial integration. In addition a semistructured interview was performed covering medical history as well as physical, emotional, social and psychosexual development. The results were evaluated using a computerized statistical program for social sciences. Forty-five patients agreed to participate (44 could be interviewed) and their medical data did not differ from the 20 patients (medical data were available from 16 patients) who refused to participate. Median age at diagnosis was below 1 year in 54.8 of the participating patients; range was from 0 to 30 years. Of the participants, 48.6%, 34.2% and 17.2% suffered from the simple-virilizing-, salt-wasting-, and late-onset-form of congenital adrenal hyperplasia, respectively. The mean adult height was 157.8 cm, and mean weight was 56.8 kg. In 35.7% the degree of genital virilization was classified as Prader stage 3 or 4. The patients with the salt-wasting form were significantly more virilized at birth than those with the simple-virilizing form resulting in more genital operations and more complications in later life. The patients differed significantly from controls in certain aspects. They were more often single (47.8% vs 66.7%) and had less children (22.2% vs 38.6%). Patients with the salt-wasting form of congenital adrenal hyperplasia also had more problems in establishing heterosexual relationships and conceiving and bearing children. Homosexual preference was not increased. In addition, significant impairments were found with regard to psychosexual identification, but they were successful in terms of adjustment to illness and in receiving social support. The overall quality of life was not significantly different in patients and controls. Even though the patients suffered from a chronic illness and congenital malformations which significantly disturbed their body image, female identity and psychosexual identification, no effect on the overall quality of life could be detected. The differences found regarding social support and illness processing may be mechanisms which they have developed to enable them to cope. These mechanisms seem to be helpful and necessary to maintain a high level of well-being despite impairment, which is in turn reflected by a high quality of life.

Notes: Abstract  We describe a 2-month-old boy with penoscro- tal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogenital malformations and characteristic facies closely resembled two unrelated patients with minute deletions of chromosome 13q who we reported earlier. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q33.2qter that regulate(s) the migration and development of ano-reno-genital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis). Additional studies are needed to further delineate the genetic defect.